X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
Abstract Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linke...
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BMC
2017-09-01
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Series: | Journal of Medical Case Reports |
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Online Access: | http://link.springer.com/article/10.1186/s13256-017-1420-2 |
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author | Amna Malik Ahmed Bait Amer Mohammed Salama Bander Haddad Muhammad T. Alrifai Mohammed Al Balwi William Davies Wafaa Eyaid |
author_facet | Amna Malik Ahmed Bait Amer Mohammed Salama Bander Haddad Muhammad T. Alrifai Mohammed Al Balwi William Davies Wafaa Eyaid |
author_sort | Amna Malik |
collection | DOAJ |
description | Abstract Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). Case presentation We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy. Genetic analysis revealed a 1.68 Mb deletion encompassing STS in 95% of cells while biochemical analysis revealed correspondingly low steroid sulfatase activity consistent with a diagnosis of X-linked ichthyosis. The psychotic symptoms could be reasonably well controlled by administration of an atypical antipsychotic. Conclusions This report describes a case of comorbid X-linked ichthyosis and psychosis (most closely corresponding to early-onset schizophrenia) for the first time, and suggests that deficiency for steroid sulfatase and contiguous genes may increase vulnerability to psychosis as well as other psychological disorders. |
first_indexed | 2024-04-12T05:15:40Z |
format | Article |
id | doaj.art-2fb81e0eed51422fa2d33caf76845b64 |
institution | Directory Open Access Journal |
issn | 1752-1947 |
language | English |
last_indexed | 2024-04-12T05:15:40Z |
publishDate | 2017-09-01 |
publisher | BMC |
record_format | Article |
series | Journal of Medical Case Reports |
spelling | doaj.art-2fb81e0eed51422fa2d33caf76845b642022-12-22T03:46:37ZengBMCJournal of Medical Case Reports1752-19472017-09-011111610.1186/s13256-017-1420-2X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case reportAmna Malik0Ahmed Bait Amer1Mohammed Salama2Bander Haddad3Muhammad T. Alrifai4Mohammed Al Balwi5William Davies6Wafaa Eyaid7King Abdullah International Medical Research Center (KAIMRC)King Abdullah International Medical Research Center (KAIMRC)King Abdullah International Medical Research Center (KAIMRC)King Abdullah International Medical Research Center (KAIMRC)King Abdullah International Medical Research Center (KAIMRC)King Abdullah International Medical Research Center (KAIMRC)Medical Research Council Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, Cardiff UniversityKing Abdullah International Medical Research Center (KAIMRC)Abstract Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). Case presentation We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy. Genetic analysis revealed a 1.68 Mb deletion encompassing STS in 95% of cells while biochemical analysis revealed correspondingly low steroid sulfatase activity consistent with a diagnosis of X-linked ichthyosis. The psychotic symptoms could be reasonably well controlled by administration of an atypical antipsychotic. Conclusions This report describes a case of comorbid X-linked ichthyosis and psychosis (most closely corresponding to early-onset schizophrenia) for the first time, and suggests that deficiency for steroid sulfatase and contiguous genes may increase vulnerability to psychosis as well as other psychological disorders.http://link.springer.com/article/10.1186/s13256-017-1420-2Attention deficit hyperactivity disorderAutism spectrum disorderCase reportEpilepsyPsychosisSteroid sulfatase |
spellingShingle | Amna Malik Ahmed Bait Amer Mohammed Salama Bander Haddad Muhammad T. Alrifai Mohammed Al Balwi William Davies Wafaa Eyaid X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report Journal of Medical Case Reports Attention deficit hyperactivity disorder Autism spectrum disorder Case report Epilepsy Psychosis Steroid sulfatase |
title | X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report |
title_full | X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report |
title_fullStr | X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report |
title_full_unstemmed | X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report |
title_short | X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report |
title_sort | x linked ichthyosis associated with psychosis and behavioral abnormalities a case report |
topic | Attention deficit hyperactivity disorder Autism spectrum disorder Case report Epilepsy Psychosis Steroid sulfatase |
url | http://link.springer.com/article/10.1186/s13256-017-1420-2 |
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